PiSITE

PDB ID	1DEV	CHAIN	A
Protein name	MAD (mothers against decapentaplegic, Drosophila) homolog 2
Uniprot Accession	Q15796
The number of similar proteins	20
The number of binding states	6
The number of binding partners	5

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding state	Binding partners
	1DEV (CHAIN: A)
1	O95405
2	Monomeric state
3	P12755
4	P0AA25
5	Q15796 Q15796
6	Q15796 Q15796 Q9Y2U8

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Only interaction residues

#binding
partners

	4
	3
	2
	1
	0

Sequence information

LDLQPVTYSE

PAFWCSIAYY

ELNQRVGETF

HASQPSLTVD

GFTDPSNSER

FCLGLLSNVN

RNATVEMTRR

HIGRGVRLYY

IGGEVFAECL

SDSAIFVQSP

100

101

NCNQRYGWHP

ATVCKIPPGC

NLKIFNNQEF

AALLAQSVNQ

GFEAVYQLTR

150

151

MCTIRMSFVK

GWGAEYRRQT

VTSTPCWIEL

HLNGPLQWLD

KVLTQM

200

Variants

Residue	AA	Source / dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	Disease name
264_GLN	TER	ClinVar chr18:45375053 rs1914769460	Likely pathogenic	-	-	SMAD2-related disorders [-]
268_TYR	SER	ClinVar chr15:67473597 -	Likely pathogenic	-	0.9972	Aneurysm-osteoarthritis syndrome [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984]
274_TRP	CYS	VAR_086574 -	LP/P	-	0.9999	Congenital heart defects, multiple types, 8, with or without heterotaxy (CHTD8) [MIM:619657]
274_TRP	CYS	ClinVar chr18:45375021 rs367537998	Pathogenic	-	0.9999	not provided\|Congenital heart defects, multiple types, 8, with or without heterotaxy [MedGen:CN517202\|MONDO:MONDO:0859213,MedGen:C5562042,OMIM:619657]
274_TRP	TER	ClinVar chr15:67473616 -	Pathogenic	-	-	not provided [MedGen:CN517202]
274_TRP	TER	ClinVar chr15:67473615 -	Pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
278_ALA	VAL	VAR_086575 -	US	-	0.6422	Loeys-Dietz syndrome 6 (LDS6) [MIM:619656]
280_TYR	TER	ClinVar chr15:67473634 -	Pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
281_GLU	LYS	ClinVar chr15:67473635 rs387906853	Likely pathogenic	-	0.9998	Aneurysm-osteoarthritis syndrome\|not provided\|Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
285_ARG	CYS	8.3kJPN chr15:67473647 rs886039137	-	0.0001	0.9898	-
287_GLY	ARG	ClinVar chr15:67473653 rs863223737	Pathogenic/Likely pathogenic	-	1.0	not provided\|Familial thoracic aortic aneurysm and aortic dissection [MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
287_GLY	ARG	ClinVar chr15:67473653 rs863223737	Pathogenic/Likely pathogenic	-	1.0	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
294_GLN	TER	ClinVar chr15:67473674 rs1566999458	Pathogenic/Likely pathogenic	-	-	not provided\|Familial aortopathy\|Familial thoracic aortic aneurysm and aortic dissection [MedGen:C3661900\|MedGen:CN078214\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
300_ASP	VAL	VAR_036473 -	US	-	1.0	A colorectal cancer sample
300_ASP	HIS	ClinVar chr15:67473692 rs863223738	Likely pathogenic	-	1.0	not provided\|Familial thoracic aortic aneurysm and aortic dissection [MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
302_PHE	LEU	ClinVar chr15:67473700 rs1250669634	Likely pathogenic	-	0.9999	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
303_THR	ILE	ClinVar chr15:67473702 rs387906851	Pathogenic	-	0.9948	Aneurysm-osteoarthritis syndrome [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984]
303_THR	ARG	ClinVar chr18:45374935 rs2144300077	Likely pathogenic	-	0.9983	Loeys-Dietz syndrome 6 [MONDO:MONDO:0030500,MedGen:C5562041,OMIM:619656]
304_ASP	VAL	ClinVar chr15:67473705 rs2140314210	Pathogenic	-	0.9969	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
305_PRO	ALA	ClinVar chr15:67473707 rs863223739	Pathogenic	-	0.9974	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
308_SER	TER	ClinVar chr15:67473717 rs753486471	Pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
310_ARG	CYS	ClinVar chr15:67473722 rs794727798	Pathogenic/Likely pathogenic	-	0.9991	not provided\|Familial thoracic aortic aneurysm and aortic dissection [MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
310_ARG	HIS	ClinVar chr15:67473723 rs863223740	Pathogenic/Likely pathogenic	-	0.9953	not provided\|Familial thoracic aortic aneurysm and aortic dissection [MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
312_CYS	SER	VAR_086576 -	LP/P	-	0.9886	Congenital heart defects, multiple types, 8, with or without heterotaxy (CHTD8) [MIM:619657]
312_CYS	SER	ClinVar chr18:45374908 rs797044882	Pathogenic	-	0.9886	Inborn genetic diseases\|Congenital heart defects, multiple types, 8, with or without heterotaxy [MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0859213,MedGen:C5562042,OMIM:619657]
316_LEU	PRO	ClinVar chr15:67473741 rs863223741	Likely pathogenic	-	0.9998	not provided [MedGen:CN517202]
318_ASN	LYS	VAR_086577 -	US	-	0.9996	-
321_ARG	LYS	ClinVar chr15:67473756 rs387906852	Pathogenic	-	0.9982	Aneurysm-osteoarthritis syndrome [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984]
325_VAL	GLU	ClinVar chr15:67473768 rs1566999601	Likely pathogenic	-	0.9991	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
326_GLU	GLY	ClinVar chr15:67473771 rs1566999610	Likely pathogenic	-	0.9932	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
329_ARG	TRP	ClinVar chr15:67473779 rs387906850	Pathogenic	-	0.9999	Aneurysm-osteoarthritis syndrome\|not provided\|Familial thoracic aortic aneurysm and aortic dissection\|Ehlers-Danlos syndrome [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249]
329_ARG	GLN	ClinVar chr15:67473780 rs730880214	Pathogenic/Likely pathogenic	-	0.9996	Loeys-Dietz syndrome\|not provided\|Connective tissue disorder\|Aneurysm-osteoarthritis syndrome\|Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030\|MedGen:C3661900\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
329_ARG	GLY	ClinVar chr18:45374858 rs2144299416	Pathogenic	-	0.9998	not provided [MedGen:C3661900]
333_GLY	TER	ClinVar chr15:67473791 rs730880215	Pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
333_GLY	VAL	ClinVar chr15:67477065 rs1555413991	Pathogenic	-	0.9994	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
339_TYR	TER	ClinVar chr15:67477084 -	Pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
348_GLU	TER	ClinVar chr15:67477109 -	Likely pathogenic	-	-	Aneurysm-osteoarthritis syndrome [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984]
353_SER	ARG	ClinVar chr18:45372110 -	Likely pathogenic	-	0.9986	Loeys-Dietz syndrome 6 [MONDO:MONDO:0030500,MedGen:C5562041,OMIM:619656]
357_VAL	ILE	8.3kJPN chr15:67477136 rs1468779374	-	0.0001	0.5903	-
358_GLN	TER	ClinVar chr15:67477139 rs1595960447	Pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
361_ASN	THR	VAR_086578 -	US	-	0.9268	Loeys-Dietz syndrome 6 (LDS6) [MIM:619656]
361_ASN	THR	ClinVar chr18:45372087 rs2144290354	Pathogenic	-	0.9268	Loeys-Dietz syndrome 6 [MONDO:MONDO:0030500,MedGen:C5562041,OMIM:619656]
364_GLN	TER	ClinVar chr15:67477157 rs1963178887	Pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
365_ARG	CYS	8.3kJPN chr15:67477160 rs967072552	-	0.0001	0.9688	-
373_VAL	PHE	ClinVar chr15:67477184 rs1320208623	Likely pathogenic	-	0.9998	Aneurysm-osteoarthritis syndrome\|Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
379_GLY	TER	ClinVar chr15:67477202 rs1567002115	Pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
388_GLN	ARG	VAR_086579 -	US	-	0.7919	Loeys-Dietz syndrome 6 (LDS6) [MIM:619656]
397_SER	TYR	VAR_086580 -	US	-	0.9245	Loeys-Dietz syndrome 6 (LDS6) [MIM:619656]
403_GLU	TER	ClinVar chr15:67479774 rs387906856	Pathogenic	-	-	Aneurysm-osteoarthritis syndrome [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984]
406_TYR	CYS	ClinVar chr18:45371774 rs2144287574	Pathogenic	-	0.9897	not provided [MedGen:C3661900]
407_GLN	LEU	ClinVar chr15:67479787 rs1595962708	Likely pathogenic	-	0.5977	Aneurysm-osteoarthritis syndrome [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984]
410_ARG	TER	ClinVar chr15:67479795 rs757106110	Pathogenic	-	-	not provided\|Familial thoracic aortic aneurysm and aortic dissection [MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
422_TRP	TER	ClinVar chr15:67479832 -	Pathogenic/Likely pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
423_GLY	TER	ClinVar chr15:67479834 rs2140323765	Pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
427_ARG	THR	ClinVar chr15:67479847 rs886038770	Likely pathogenic	-	0.9982	Cardiovascular phenotype [MedGen:CN230736]
435_PRO	SER	8.3kJPN chr18:45368299 rs1236865589	-	0.0001	0.9995	-
440_LEU	ARG	VAR_011377 -	US	-	0.9986	A colorectal carcinoma sample
442_LEU	ARG	ClinVar chr18:45368277 -	Pathogenic	-	0.9994	not provided [MedGen:C3661900]
445_PRO	HIS	VAR_011378 -	US	-	0.9999	A colorectal carcinoma sample
448_TRP	TER	ClinVar chr15:67482813 rs2140327860	Pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
449_LEU	SER	VAR_086581 -	US	-	0.9999	Loeys-Dietz syndrome 6 (LDS6) [MIM:619656]
449_LEU	SER	ClinVar chr18:45368256 rs2144276501	Pathogenic	-	0.9999	Loeys-Dietz syndrome 6 [MONDO:MONDO:0030500,MedGen:C5562041,OMIM:619656]
450_ASP	GLU	VAR_011379 -	US	-	0.9992	A colorectal carcinoma sample

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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

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Sequence information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Variants

Reference

	Q15796	Mothers against decapentaplegic homolog 2
	Q15796	Mothers against decapentaplegic homolog 2